PMM2-CDG: phenotype and genotype in four affected family members.
about
A nationwide survey of PMM2-CDG in Italy: high frequency of a mild neurological variant associated with the L32R mutation.The Analysis of Variants in the General Population Reveals That Is Extremely Tolerant to Missense Mutations and That Diagnosis of PMM2-CDG Can Benefit from the Identification of Modifiers
P2860
PMM2-CDG: phenotype and genotype in four affected family members.
description
2013 nî lūn-bûn
@nan
2013年の論文
@ja
2013年学术文章
@wuu
2013年学术文章
@zh
2013年学术文章
@zh-cn
2013年学术文章
@zh-hans
2013年学术文章
@zh-my
2013年学术文章
@zh-sg
2013年學術文章
@yue
2013年學術文章
@zh-hant
name
PMM2-CDG: phenotype and genotype in four affected family members.
@en
PMM2-CDG: phenotype and genotype in four affected family members.
@nl
type
label
PMM2-CDG: phenotype and genotype in four affected family members.
@en
PMM2-CDG: phenotype and genotype in four affected family members.
@nl
prefLabel
PMM2-CDG: phenotype and genotype in four affected family members.
@en
PMM2-CDG: phenotype and genotype in four affected family members.
@nl
P2093
P1433
P1476
PMM2-CDG: phenotype and genotype in four affected family members.
@en
P2093
Barbara Bortot
Dora Cosentini
Eleonora De Martino
Giovanni Maria Severini
Marco Carrozzi
Stefania Biffi
P304
P356
10.1016/J.GENE.2013.07.083
P407
P577
2013-08-26T00:00:00Z